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1. Full Text Exome sequencing in patients with chronic central serous chorioretinopathy
by Schellevis, RL and Breukink, MB and Gilissen, C and Boon, CJF and Hoyng, CB and de Jong, EK and den Hollander, AI
SCIENTIFIC REPORTS, ISSN 2045-2322, 04/2019, Volume 9, Issue 1, pp. 6598 - 7
Chronic central serous chorioretinopathy (cCSC) is a multifactorial eye disease characterized by subretinal fluid accumulation that leads to vision loss.... 
GENE-EXPRESSION | SUPPORT | VARIANTS | ASSOCIATION | MULTIDISCIPLINARY SCIENCES | Proteins | Genes | Sex | Eye diseases | Genomes | Genetic factors | Females | Males
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2. Full Text Identification of an Amino Acid Motif in HLA–DRβ1 That Distinguishes Uveitis in Patients With Juvenile Idiopathic Arthritis
by Haasnoot, Anne‐Mieke J. W and Schilham, Marco W and Kamphuis, Sylvia and Hissink Muller, Petra C. E and Heiligenhaus, Arnd and Foell, Dirk and Minden, Kirsten and Ophoff, Roel A and Radstake, Timothy R. D. J and Den Hollander, Anneke I and Reinards, Tjitske H. C. M and Hiddingh, Sanne and Schalij‐Delfos, Nicoline E and Hoppenreijs, Esther P. A. H and Rossum, Marion A. J and Wouters, Carine and Saurenmann, Rotraud K and Berg, J. Merlijn and Wulffraat, Nico M and Cate, Rebecca and Boer, Joke H and Pulit, Sara L and Kuiper, Jonas J. W and Kallinich, Tilmann and Thon, Angelika and Kümmerle‐Deschner, Jasmin and Huppertz, Hans‐Iko and Horneff, Gerd and Hospach, Anton and Mönkemöller, Kirsten and Haas, Johannes‐Peter and Ganser, Gerd and Foeldvari, Ivan and Klotsche, Jens and ICON-JIA Study Group
Arthritis & Rheumatology, ISSN 2326-5191, 07/2018, Volume 70, Issue 7, pp. 1155 - 1165
Uveitis is a visually debilitating disorder that affects up to 30% of children with the most common forms of juvenile idiopathic arthritis (JIA). The disease... 
Binding | Antigen presentation | Complications | Linkage disequilibrium | Serine | Amino acids | Genomes | Arthritis | Patients | Girls | Subgroups | Immunology | Major histocompatibility complex | Alleles | Uveitis | Histocompatibility antigen HLA | Children | Sexual dimorphism | Histocompatibility
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3. Full Text Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation: Implications in Age-Related Macular Degeneration
by Lorés-Motta, Laura and Paun, Constantin C and Corominas, Jordi and Pauper, Marc and Geerlings, Maartje J and Altay, Lebriz and Schick, Tina and Daha, Mohamed R and Fauser, Sascha and Hoyng, Carel B and den Hollander, Anneke I and de Jong, Eiko K
Ophthalmology, ISSN 0161-6420, 07/2018, Volume 125, Issue 7, pp. 1064 - 1074
Purpose: To identify genetic variants associated with complement activation, which may help to select age-related macular degeneration (AMD) patients for... 
Macular degeneration | Genetic research | Physiological aspects | Analysis | Genomics | Index Medicus
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4. Full Text Identification of TP53BP2 as a Novel Candidate Gene for Primary Open Angle Glaucoma by Whole Exome Sequencing in a Large Multiplex Family
by Micheal, Shazia and Saksens, Nicole T.M and Hogewind, Barend F and Khan, Muhammad Imran and Hoyng, Carel B and den Hollander, Anneke I
Molecular Neurobiology, ISSN 0893-7648, 2/2018, Volume 55, Issue 2, pp. 1387 - 1395
Primary open angle glaucoma (POAG) is a major type of glaucoma characterized by progressive loss of retinal ganglion cells with associated visual field loss... 
Neurology | Neurosciences | Biomedicine | Whole exome sequencing | Neurobiology | Primary open angle glaucoma | TP53BP2 | Cell Biology | COMMON VARIANTS | SUSCEPTIBILITY LOCI | DEATH | LOW-TENSION GLAUCOMA | NEUROSCIENCES | P53 | RETINAL GANGLION-CELLS | CYP1B1 | MUTATIONS | ONSET | GENOME-WIDE ASSOCIATION | Genetic Predisposition to Disease | Glaucoma, Open-Angle - genetics | Humans | Middle Aged | Male | Whole Exome Sequencing | Exome | Genetic Variation | Pedigree | Computer Simulation | Apoptosis Regulatory Proteins - genetics | Female | Mutation | Glaucoma | Nucleotide sequencing | Ophthalmology | Genes | Medical genetics | DNA sequencing | Neurons | Visual field | Retina | Circadian rhythm | Polymerase chain reaction | Genetic variance | Retinal ganglion cells | Genetic factors | Ganglion cells | Deoxyribonucleic acid--DNA | Apoptosis | Index Medicus
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5. Full Text Reply
by Saksens, Nicole T.M and Van Huet, Ramon A.C and Van Lith-Verhoeven, Janneke J.C and Den Hollander, Anneke I and Hoyng, Carel B and Boon, Camiel J.F
Ophthalmology, ISSN 0161-6420, 10/2015, Volume 122, Issue 10, p. e60
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6. Full Text Geographic distribution of rare variants associated with age-related macular degeneration
by Geerlings, Maartje J and Kersten, Eveline and Groenewoud, Joannes M. M and Fritsche, Lars G and Hoyng, Carel B and de Jong, Eiko K and den Hollander, Anneke I
Molecular Vision, ISSN 1090-0535, 01/2018, Volume 24, pp. 75 - 82
Purpose: A recent genome-wide association study by the International Age-related Macular Degeneration Genomics Consortium (IAMDGC) identified seven rare... 
COMPLEMENT FACTOR-H | GENETIC-VARIATION | COMMON VARIANTS | CFH GENE | HIGH-RISK | R1210C | BIOCHEMISTRY & MOLECULAR BIOLOGY | MUTATION | OPHTHALMOLOGY | POPULATIONS | CONFERS | GENOME-WIDE ASSOCIATION | Macular degeneration | Geographical distribution | Gene frequency | Population studies | Degeneration | Age | Geriatrics | Index Medicus
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7. Full Text Reply
by Saksens, Nicole T.M and van Huet, Ramon A.C and van Lith-Verhoeven, Janneke J.C and den Hollander, Anneke I and Hoyng, Carel B and Boon, Camiel J.F
Ophthalmology, ISSN 0161-6420, 10/2015, Volume 122, Issue 10, pp. e60 - e60
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8. Full Text Reply
by Saksens, Nicole T.M and van Huet, Ramon A.C and van Lith-Verhoeven, Janneke J.C and den Hollander, Anneke I and Hoyng, Carel B and Boon, Camiel J.F
Ophthalmology, ISSN 0161-6420, 10/2015, Volume 122, Issue 10, p. e60
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9. Full Text Association of genetic variants with response to anti-vascular endothelial growth factor therapy in age-related macular degeneration
by Lorés-Motta, Laura and Riaz, Moeen and Grunin, Michelle and Corominas, Jordi and Van Asten, Freekje and Pauper, Marc and Leenders, Mathieu and Richardson, Andrea J and Muether, Philipp and Cree, Angela J and Griffiths, Helen L and Pham, Connie and Belanger, Marie-Claude and Meester-Smoor, Magda A and Ali, Manir and Heid, Iris M and Fritsche, Lars G and Chakravarthy, Usha and Gale, Richard and McKibbin, Martin and Inglehearn, Chris F and Schlingemann, Reinier O and Omar, Amer and Chen, John and Koenekoop, Robert K and Fauser, Sascha and Guymer, Robyn H and Hoyng, Carel B and De Jong, Eiko K and Lotery, Andrew J and Mitchell, Paul and Den Hollander, Anneke I and Baird, Paul N and Chowers, Itay
JAMA Ophthalmology, ISSN 2168-6165, 08/2018, Volume 136, Issue 8, pp. 875 - 884
IMPORTANCE Visual acuity (VA) outcomes differ considerably among patients with neovascular age-related macular degeneration (nAMD) treated with anti-vascular... 
NEOVASCULAR AMD | POLYMORPHISMS | RARE | BEVACIZUMAB | VEGF | PREDICTORS | TOLL-LIKE RECEPTORS | OPHTHALMOLOGY | SUBGROUP ANALYSIS | INTRAVITREAL RANIBIZUMAB TREATMENT | GENOME-WIDE ASSOCIATION | Online First | Original Investigation | Research
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10. Full Text Corrigendum to “Nutritional Risk Factors for Age-Related Macular Degeneration”
by Ersoy, Lebriz and Ristau, Tina and Lechanteur, Yara T and Hahn, Moritz and Hoyng, Carel B and Kirchhof, Bernd and Hollander, Anneke I. den and Fauser, Sascha
BioMed Research International, ISSN 2314-6133, 2016, Volume 2016, pp. 1 - 1
Corrigendum
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11. Full Text Single nucleotide polymorphism rs13079080 is associated with differential regulation of the succinate receptor 1 (SUCNR1) gene by miRNA-4470
by Louer, Elja M.M and Lorés-Motta, Laura and Ion, Ana Mãdãlina and Den Hollander, Anneke I and Deen, Peter M.T
RNA Biology, ISSN 1547-6286, 07/2019, pp. 1 - 8
Oxidative stress is a feature of many common diseases. It leads to excessive formation and subsequent release of the mitochondrial metabolite succinate, which... 
Index Medicus
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12. Full Text Corrigendum to "Nutritional Risk Factors for Age-Related Macular Degeneration"
by Ersoy, Lebriz and Ristau, Tina and Lechanteur, Yara T and Hahn, Moritz and Hoyng, Carel B and Kirchhof, Bernd and den Hollander, Anneke I and Fauser, Sascha
BioMed research international, ISSN 2314-6133, 2016, Volume 2016, pp. 7589328 - 7589328
[This corrects the article DOI: 10.1155/2014/413150.]. 
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13. Full Text Alteration of retinal layers in healthy subjects over 60 years of age until nonagenarians
by Altay, L and Jahn, C and Yorgun, M.A and Caramoy, A and Schick, T and Hoyng, C.B and Hollander, A.I. den and Fauser, S
Clinical Ophthalmology, ISSN 1177-5467, 2017, Volume 11, pp. 1499 - 1503
PURPOSE: To assess alterations of retinal layers in healthy subjects over 60 years old. METHODS: Retinal layers of 160 healthy subjects (aged 60-100 years)... 
Very elderly | Retinal thickness | Healthy | SDOCT | Photoreceptor | Nonagenarians | Macular degeneration | Care and treatment | Diagnosis | Research | Retinal diseases | Risk factors | Glaucoma | Diabetic retinopathy | Medical imaging | Clinical trials | Retina | Optics | Gender | Males | Studies | Aging | Photoreceptors | Software | Diabetes | Ophthalmology | Age | retinal thickness | very elderly | healthy | photoreceptor
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14. Full Text Whole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genes
by Porter, Louise F and Saptarshi, Neil and Fang, Yongxiang and Rathi, Sonika and Den Hollander, Anneke I and De Jong, Eiko K and Clark, Simon J and Bishop, Paul N and Olsen, Timothy W and Liloglou, Triantafillos and Chavali, Venkata R. M and Paraoan, Luminita
Clinical Epigenetics, ISSN 1868-7075, 01/2019, Volume 11, Issue 1, pp. 6 - 6
BackgroundAge-related macular degeneration (AMD) is a degenerative disorder of the central retina and the foremost cause of blindness. The retinal pigment... 
ONCOLOGY | IL17RC PROMOTER | PACKAGE | DISEASE | MECHANISMS | EXPRESSION | ASSOCIATION | DNA-METHYLATION | HYPOMETHYLATION | REGION | BLOOD | Sulfites | Epigenetic inheritance | Genes | Genomics | Genomes | Genetic transcription | Epithelium | Macular degeneration | Analysis | DNA | Blindness | Physiological aspects | Genetic research | Genetic aspects | Methylation
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15. Full Text Omics in Ophthalmology: Advances in Genomics and Precision Medicine for Leber Congenital Amaurosis and Age-Related Macular Degeneration
by Hollander, A.I. den
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 2016, Volume 57, Issue 3, pp. 1378 - 1387
The genomic revolution has had a huge impact on our understanding of the genetic defects and disease mechanisms underlying ophthalmic diseases. Two examples... 
Retinal degeneration | Gene therapy | Genetic diseases | Age-related macular degeneration | Retinal dystrophy | genetic diseases | NMNAT1 MUTATIONS | retinal dystrophy | COMMON VARIANTS | retinal degeneration | AQUEOUS-HUMOR | RECESSIVE MUTATIONS | gene therapy | MOLECULAR DIAGNOSIS | HIGH-RISK | OPHTHALMOLOGY | GENE-THERAPY | WIDE ASSOCIATION | PROTEOMIC ANALYSIS | age-related macular degeneration | RETINITIS-PIGMENTOSA | Genetic Testing | Macular Degeneration - genetics | Humans | Genotype | Leber Congenital Amaurosis - diagnosis | Leber Congenital Amaurosis - genetics | Ophthalmology | Genomics - methods | Macular Degeneration - diagnosis | Precision Medicine - methods | Index Medicus
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16. Full Text Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia
by Kohl, S and Zobor, D and Chiang, W.C and Weisschuh, N and Staller, J and Menendez, I.G and Chang, S and Beck, S.C and Garrido, M. Garcia and Sothilingam, V and Seeliger, M.W and Stanzial, F and Benedicenti, F and Inzana, F and Heon, E and Vincent, A and Beis, J and Strom, T.M and Rudolph, G and Roosing, S and Hollander, A.I. den and Cremers, F.P.M and Lopez, I and Ren, H and Moore, A.T and Webster, A.R and Michaelides, M and Koenekoop, R.K and Zrenner, E and Kaufman, R.J and Tsang, S.H and Wissinger, B and Lin, J.H
Nature Genetics, ISSN 1061-4036, 2015, Volume 47, Issue 7, pp. 757 - 765
Achromatopsia (ACHM) is an autosomal recessive disorder characterized by color blindness, photophobia, nystagmus and severely reduced visual acuity. Using... 
LONG-TERM | RETINAL STRUCTURE | ALPHA-SUBUNIT | CONGENITAL ACHROMATOPSIA | OPTICAL COHERENCE TOMOGRAPHY | MOUSE MODEL | GENETICS & HEREDITY | GENE-THERAPY | ENDOPLASMIC-RETICULUM STRESS | TRANSCRIPTION FACTOR | TOTAL COLOURBLINDNESS | Genetic Association Studies | Humans | Mice, Inbred C57BL | Middle Aged | Male | Mutation, Missense | Unfolded Protein Response | Activating Transcription Factor 6 - genetics | Color Vision Defects - genetics | Mice, Knockout | Young Adult | Animals | Pedigree | Retinal Cone Photoreceptor Cells - pathology | Adolescent | HEK293 Cells | Aged, 80 and over | Adult | Female | Transcription, Genetic | Child | Gene mutations | Genetic susceptibility | Genetic research | Genetic aspects | Research | Color blindness | Health aspects | Risk factors | Haplotypes | Medical research | Biomedical research | Laboratories | Genes | Grants | Patients | Proteins | Hospitals | Photoreceptors | Software | Mutation | Chromosomes | Index Medicus
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17. Full Text Reply
by Saksens, Nicole T.M., MD and van Huet, Ramon A.C., MD and van Lith-Verhoeven, Janneke J.C., MD, PhD and den Hollander, Anneke I., PhD and Hoyng, Carel B., MD, PhD and Boon, Camiel J.F., MD, PhD
Ophthalmology, ISSN 0161-6420, 2015, Volume 122, Issue 10, pp. e60 - e60
Ophthalmology
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18. Full Text Role of Lysyl oxidase-like 1 gene polymorphisms in Pakistani patients with pseudoexfoliative glaucoma
by Micheal, S and Khan, M.I and Akhtar, F and Ali, M and Ahmed, A and Hollander, A.I. den and Qamar, R
Molecular Vision, ISSN 1090-0535, 2012, Volume 18, Issue 110, pp. 1040 - 1044
PURPOSE: Single nucleotide polymorphisms (SNPs) rs1048661 (p.R141L) and rs3825942 (p.G153D) in the lysyl oxidase-like 1 (LOXL1) gene have been previously... 
EXFOLIATION GLAUCOMA | POPULATION | COMMON SEQUENCE VARIANTS | LOXL1 GENE | TRABECULAR MESHWORK | BIOCHEMISTRY & MOLECULAR BIOLOGY | OPHTHALMOLOGY | ASSOCIATION | Haplotypes | Gene Frequency | Humans | Middle Aged | Asian Continental Ancestry Group - genetics | Molecular Sequence Data | Male | Glaucoma - complications | Case-Control Studies | Amino Acid Oxidoreductases - genetics | Pakistan | Base Sequence | Alleles | Polymorphism, Single Nucleotide - genetics | Adult | Exfoliation Syndrome - complications | Female | Glaucoma - genetics | Exfoliation Syndrome - genetics | Index Medicus | Glaucoma | Gene frequency | LOXL1 gene | Vision | genomics | Single-nucleotide polymorphism | Gene polymorphism | DNA sequencing
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19. Full Text Novel compound heterozygous NMNAT1 variants associated with leber congenital amaurosis
by Siemiatkowska, Anna M and van den Born, L. Ingeborgh and van Genderen, Maria M and Bertelsen, Mette and Zobor, Ditta and Rohrschneider, Klaus and van Huet, Ramon A and Nurohmah, Siska and Klevering, B. Jeroen and Kohl, Susanne and Faradz, Sultana M. H and Rosenberg, Thomas and den Hollander, Anneke I and Collin, Rob W. J and Cremers, Frans P. M
Molecular Vision, 06/2014, Volume 20, pp. 253 - 759
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20. Full Text Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome
by Micheal, S and Khan, M.I and Akhtar, F and Weiss, M.M and Islam, F and Ali, M and Qamar, R and Maugeri, A and Hollander, A.I. den
Molecular Vision, ISSN 1090-0535, 2012, Volume 18, Issue 199, pp. 1918 - 1926
PURPOSE: To describe a novel mutation in the fibrillin-1 (FBN1) gene in a large Pakistani family with autosomal dominant Marfan syndrome (MFS). METHODS: Blood... 
OPHTHALMOLOGY | CALCIUM-BINDING | GENOTYPE-PHENOTYPE CORRELATIONS | MICROFIBRILS | BIOCHEMISTRY & MOLECULAR BIOLOGY | Exons | Humans | Middle Aged | Male | Mutation, Missense | Case-Control Studies | Pakistan | Genes, Dominant | Adult | Female | Marfan Syndrome - complications | Child | Microfilament Proteins - genetics | Ectopia Lentis - pathology | Fibrillin-1 | Fibrillins | Glaucoma - complications | Sequence Analysis, DNA | Marfan Syndrome - genetics | Polymorphism, Restriction Fragment Length | Pedigree | Adolescent | Heterozygote | Marfan Syndrome - pathology | Consanguinity | Glaucoma - pathology | Glaucoma - genetics | Ectopia Lentis - genetics | Ectopia Lentis - complications | Index Medicus | Glaucoma | Cysteine | Marfan's syndrome | Calcium | Connective tissue diseases | Serine | Myopia | Fibrillin | Polymerase chain reaction | Missense mutation | Restriction fragment length polymorphism | Vision
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